Background : Cretinism is a condition or disorder caused by dysfunction of thyroid gland which produced the thyroid hormone. There are two types of cretinism : endemic cretinism and sporadic cretinism. Endemic cretinism is caused by iodine deficiency, while sporadic cretinism or congenital hypothyroidism is caused by abnormality of the thyroid gland. The global incidence of congenital hypothyroidism is around 1:3000, even in some endemic areas the incidence is around 1:900.
Case Presentation Summary : A fifteen years old girl, referred from a sub-district general hospital with cretinism. Her mother looked stunted, but her father and her siblings were normal stature. This patient has normal birthweight (4 kilograms), spontaneously crying. From the anthropometric examination, we found microcephaly, severe stunted and severe malnourished. From physical examination, we found cretinism face (macroglossia, flat nose, coarse-dry skin, but hernia umbilicalis was absent), we also found that this patient had mental retardation and developmental delays. This patient could walk but with some help and could only speak two words by calling her parents “mama” or “papa”. The laboratory findings were FT3 1,55 pg/ml, free T4 6,7 pmol/l , TSHs > 100.000 µIU/ml and her Brain-CT revealed that there were bilateral calcification in the ganglia basalis (Fahr disease).
Learning Points/Discussion : Cretinism is a disorder caused by deficiency of thyroid hormone. Patients with this disorder often having delay in their physical and mental development. This disease is irreversible but can be easily prevented by doing a simple screening as early as 48-72 hours old or before hospital discharge.

Keywords: cretinism congenital hypothyroidism screening

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